quality control of next-generation sequencing data without a reference
;Urmi H Trivedi;Timothée eCézard;Stephen eBridgett;Anna eMontazam;Jenna eNichols;Mark eBlaxter;Mark eBlaxter;Karim eGharbi
chemical record (new york, ny)2014Vol. 5pp. -
229
trivedi2014frontiersquality
Abstract
Next-generation sequencing (NGS) technologies have dramatically expanded the breadth of genomics. Genome-scale data, once restricted to a small number of biomedical model organisms, can now be generated for virtually any species at remarkable speed and low cost. Yet non-model organisms often lack a suitable reference to map sequence reads against, making alignment-based quality control (QC) of NGS data more challenging than cases where a well-assembled genome is already available. Here we show that by generating a rapid, non-optimised draft assembly of raw reads, it is possible to obtain reliable and informative QC metrics, thus removing the need for a high quality reference. We use benchmark datasets generated from control samples across a range of genome sizes to illustrate that QC inferences made using draft assemblies are broadly equivalent to those made using a well-established reference, and describe QC tools routinely used in our production facility to assess the quality of NGS data from non-model organisms.